mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for CYP1B1
Gene summary
Basic gene Info.Gene symbolCYP1B1
Gene namecytochrome P450, family 1, subfamily B, polypeptide 1
CytomapUCSC genome browser: 2p22.2
Type of geneprotein-coding
Descriptionaryl hydrocarbon hydroxylasecytochrome P450 1B1cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)flavoprotein-linked monooxygenasemicrosomal monooxygenasexenobiotic monooxygenase
Modification date20141219
dbXrefs MIM : 601771
Ensembl : ENSG00000138061
HPRD : 03464
Vega : OTTHUMG00000100970
ProteinUniProt: Q16678
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CYP1B1
BioGPS: 1545
PathwayNCI Pathway Interaction Database: CYP1B1
Pathway Commons: CYP1B1
ContextiHOP: CYP1B1
ligand binding site mutation search in PubMed: CYP1B1
UCL Cancer Institute: CYP1B1
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0006805xenobiotic metabolic process22888116
GO:0008202steroid metabolic process22888116
GO:0008210estrogen metabolic process23821647
GO:0019369arachidonic acid metabolic process15258110
GO:0042572retinol metabolic process15258110
GO:0042574retinal metabolic process15258110
GO:0071407cellular response to organic cyclic compound23275542

Ligand binding site mutations for CYP1B1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.

Protein structure related information for CYP1B1
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for CYP1B1 from PDB

Differential gene expression and gene-gene network for CYP1B1
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of CYP1B1 and the right PPI network was created from samples without mutations in the LBS of CYP1B1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for CYP1B1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0020302Hydrophthalmos27Biomarker, GeneticVariation
umls:C0339573Glaucoma, Primary Open Angle19Biomarker, GeneticVariation
umls:C1458155Breast Neoplasms19AlteredExpression, Biomarker, GeneticVariation
umls:C0007137Carcinoma, Squamous Cell10Biomarker, GeneticVariation
umls:C0033578Prostatic Neoplasms5Biomarker, GeneticVariation, PostTranslationalModification
umls:C0024121Lung Neoplasms4Biomarker, GeneticVariation
umls:C0009404Colorectal Neoplasms4Biomarker, GeneticVariation
umls:C0344559Peters anomaly3Biomarker, GeneticVariation
umls:C0018800Cardiomegaly2Biomarker, Therapeutic
umls:C0919267Ovarian Neoplasms2Biomarker
umls:C0001430Adenoma2Biomarker, GeneticVariation
umls:C1961102Precursor Cell Lymphoblastic Leukemia-Lymphoma2Biomarker
umls:C0026640Mouth Neoplasms1Biomarker
umls:C0009363Coloboma1Biomarker, GeneticVariation

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Pharmacological information for CYP1B1
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
InvestigationalDB023422-MethoxyestradiolSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CYP1B1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
HEMHEME B3pm0AR468 C470 I471 L480

Conservation information for LBS of CYP1B1
Multiple alignments for Q16678 in multiple species
LBSAA sequence# speciesSpecies
A133GGRSLAFGHYS2Mus musculus, Rattus norvegicus
A133GGRSMAFGHYS1Homo sapiens
A133NYQDLVFAPYG1Arabidopsis thaliana
A330TDIFGASQDTL3Homo sapiens, Mus musculus, Rattus norvegicus
A330LNMFTAGTDTS1Arabidopsis thaliana
C470VGKRRCIGEEL3Homo sapiens, Mus musculus, Rattus norvegicus
C470AGRRICAGLSL1Arabidopsis thaliana
D326PATITDIFGAS3Homo sapiens, Mus musculus, Rattus norvegicus
D326KALLLNMFTAG1Arabidopsis thaliana
F134GRSLAFGHYSE2Mus musculus, Rattus norvegicus
F134GRSMAFGHYSE1Homo sapiens
F134YQDLVFAPYGH1Arabidopsis thaliana
F231SHNEEFGRTVG3Homo sapiens, Mus musculus, Rattus norvegicus
F231TEMMALAGVFN1Arabidopsis thaliana
F268QLNRNFSNFIL1Homo sapiens
F268RLHKRFDAF-L1Arabidopsis thaliana
F268QLNRNFSNFVL1Mus musculus
F268QINRNFSNFVL1Rattus norvegicus
F394MRFSSFVPVTI1Homo sapiens
F394FRLHPPTPLSL1Arabidopsis thaliana
F394MRFSSFLPVTI1Mus musculus
F394MRFTSFLPVTL1Rattus norvegicus
F463SSVMIFSVGKR2Mus musculus, Rattus norvegicus
F463SRVMIFSVGKR1Homo sapiens
F463FELIPFGAGRR1Arabidopsis thaliana
G329ITDIFGASQDT3Homo sapiens, Mus musculus, Rattus norvegicus
G329LLNMFTAGTDT1Arabidopsis thaliana
H401PVTIPHATTAN2Homo sapiens, Mus musculus
H401PLSLPHIASES1Arabidopsis thaliana
H401PVTLPHATTAN1Rattus norvegicus
I327ATITDIFGASQ3Homo sapiens, Mus musculus, Rattus norvegicus
I327ALLLNMFTAGT1Arabidopsis thaliana
I399FVPVTIPHATT1Homo sapiens
I399PTPLSLPHIAS1Arabidopsis thaliana
I399FLPVTIPHATT1Mus musculus
I399FLPVTLPHATT1Rattus norvegicus
I462ASSVMIFSVGK2Mus musculus, Rattus norvegicus
I462TSRVMIFSVGK1Homo sapiens
I462DFELIPFGAGR1Arabidopsis thaliana
I471GKRRCIGEELS3Homo sapiens, Mus musculus, Rattus norvegicus
I471GRRICAGLSLG1Arabidopsis thaliana
L264REFEQLNRNFS1Homo sapiens
L264GKMKRLHKRFD1Arabidopsis thaliana
L264RKFEQLNRNFS1Mus musculus
L264REFEQINRNFS1Rattus norvegicus
L335ASQDTLSTALL2Mus musculus, Rattus norvegicus
L335ASQDTLSTALQ1Homo sapiens
L335AGTDTSASTVD1Arabidopsis thaliana
L480LSKMQLFLFIS1Homo sapiens
L480LGLRTIQFLTA1Arabidopsis thaliana
L480LSKMLLFLFIS1Mus musculus
L480LSKTLLFLFIS1Rattus norvegicus
L509S--YGLTI-KP2Homo sapiens, Mus musculus
L509EESYGLTLQRA1Arabidopsis thaliana
L509S--YGLSI-KP1Rattus norvegicus
M132-GGRSLAFGHY2Mus musculus, Rattus norvegicus
M132-GGRSMAFGHY1Homo sapiens
M132YNYQDLVFAPY1Arabidopsis thaliana
M152AAHSMMRNFFT1Homo sapiens
M152I--SSVHLFSA1Arabidopsis thaliana
M152SAYSTMRAFST1Mus musculus
M152AAYGTMRAFST1Rattus norvegicus
N228ELLSHNEEFGR3Homo sapiens, Mus musculus, Rattus norvegicus
N228SMVTEMMALAG1Arabidopsis thaliana
Q424VVFVNQWSVNH3Homo sapiens, Mus musculus, Rattus norvegicus
Q424TLLTNIWAIAR1Arabidopsis thaliana
R145HWKVQRRAAHS1Homo sapiens
R145RWRLLRKI--S1Arabidopsis thaliana
R145HWKTQRRSAYS1Mus musculus
R145RWKERRRAAYG1Rattus norvegicus
R468FSVGKRRCIGE3Homo sapiens, Mus musculus, Rattus norvegicus
R468FGAGRRICAGL1Arabidopsis thaliana
S331DIFGASQDTLS3Homo sapiens, Mus musculus, Rattus norvegicus
S331NMFTAGTDTSA1Arabidopsis thaliana
S464SVMIFSVGKRR2Mus musculus, Rattus norvegicus
S464RVMIFSVGKRR1Homo sapiens
S464ELIPFGAGRRI1Arabidopsis thaliana
S476IGEELSKMQLF1Homo sapiens
S476AGLSLGLRTIQ1Arabidopsis thaliana
S476IGEELSKMLLF1Mus musculus
S476IGEELSKTLLF1Rattus norvegicus
T334GASQDTLSTAL3Homo sapiens, Mus musculus, Rattus norvegicus
T334TAGTDTSASTV1Arabidopsis thaliana
T398SFVPVTIPHAT1Homo sapiens
T398PPTPLSLPHIA1Arabidopsis thaliana
T398SFLPVTIPHAT1Mus musculus
T398SFLPVTLPHAT1Rattus norvegicus
V395RFSSFVPVTIP1Homo sapiens
V395RLHPPTPLSLP1Arabidopsis thaliana
V395RFSSFLPVTIP1Mus musculus
V395RFTSFLPVTLP1Rattus norvegicus
W141HYSEHWKVQRR1Homo sapiens
W141PYGHRWRLLRK1Arabidopsis thaliana
W141HYSEHWKTQRR1Mus musculus
W141HYSERWKERRR1Rattus norvegicus

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